28962[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 354926	NM_014028.4(OSTM1):c.*3329A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354927	NM_014028.4(OSTM1):c.*3319T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 906624	NM_014028.4(OSTM1):c.*3280T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 906625	NM_014028.4(OSTM1):c.*3256A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354928	NM_014028.4(OSTM1):c.*3192A>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GLikely benign
Select item 907647	NM_014028.4(OSTM1):c.*3186T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 907648	NM_014028.4(OSTM1):c.*3060G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354929	NM_014028.4(OSTM1):c.*2990T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354930	NM_014028.4(OSTM1):c.*2887G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354931	NM_014028.4(OSTM1):c.*2858A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 907649	NM_014028.4(OSTM1):c.*2799A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354932	NM_014028.4(OSTM1):c.*2773G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 904317	NM_014028.4(OSTM1):c.*2769G>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354933	NM_014028.4(OSTM1):c.*2755A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 904318	NM_014028.4(OSTM1):c.*2707C>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354934	NM_014028.4(OSTM1):c.*2547G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354935	NM_014028.4(OSTM1):c.2517_2518del	OSTM1	Deletion (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 354936	NM_014028.4(OSTM1):c.*2517del	OSTM1	Deletion (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 354937	NM_014028.4(OSTM1):c.2515_2516del	OSTM1	Deletion (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 354938	NM_014028.4(OSTM1):c.*2488del	OSTM1	Deletion (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 904319	NM_014028.4(OSTM1):c.*2487T>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354940	NM_014028.4(OSTM1):c.*2371G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354939	NM_014028.4(OSTM1):c.*2370dup	OSTM1	Duplication (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 904320	NM_014028.4(OSTM1):c.*2366A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GLikely benign
Select item 354941	NM_014028.4(OSTM1):c.*2364A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 905118	NM_014028.4(OSTM1):c.*2362A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354942	NM_014028.4(OSTM1):c.*2351del	OSTM1	Deletion (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 354943	NM_014028.4(OSTM1):c.*2344C>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354944	NM_014028.4(OSTM1):c.*2329G>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354945	NM_014028.4(OSTM1):c.*2317A>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354946	NM_014028.4(OSTM1):c.*2301A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354947	NM_014028.4(OSTM1):c.*2283T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354948	NM_014028.4(OSTM1):c.*2277G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 906694	NM_014028.4(OSTM1):c.*2276C>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GLikely benign
Select item 905119	NM_014028.4(OSTM1):c.*2276C>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 906695	NM_014028.4(OSTM1):c.*2195T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354949	NM_014028.4(OSTM1):c.*2145A>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354950	NM_014028.4(OSTM1):c.*2138G>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354951	NM_014028.4(OSTM1):c.*2053C>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354952	NM_014028.4(OSTM1):c.*2035A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354953	NM_014028.4(OSTM1):c.*1932dup	OSTM1	Duplication (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 354954	NM_014028.4(OSTM1):c.*1883T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 906696	NM_014028.4(OSTM1):c.*1844T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354955	NM_014028.4(OSTM1):c.*1634A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354956	NM_014028.4(OSTM1):c.*1574A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354957	NM_014028.4(OSTM1):c.*1469G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354958	NM_014028.4(OSTM1):c.*1455C>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354959	NM_014028.4(OSTM1):c.*1441del	OSTM1	Deletion (3 prime UTR variant)	Osteopetrosis	GBenign
Select item 354960	NM_014028.4(OSTM1):c.*1427A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354961	NM_014028.4(OSTM1):c.*1407A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354962	NM_014028.4(OSTM1):c.*1399T>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354963	NM_014028.4(OSTM1):c.*1367G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354964	NM_014028.4(OSTM1):c.*1352A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354965	NM_014028.4(OSTM1):c.*1334T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354966	NM_014028.4(OSTM1):c.*1205C>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 904383	NM_014028.4(OSTM1):c.*1166A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354967	NM_014028.4(OSTM1):c.*1161G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 904384	NM_014028.4(OSTM1):c.*1085T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354968	NM_014028.4(OSTM1):c.*1082G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 904385	NM_014028.4(OSTM1):c.*1045T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354969	NM_014028.4(OSTM1):c.*1038A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354970	NM_014028.4(OSTM1):c.*1023A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 905177	NM_014028.4(OSTM1):c.*1007G>A	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354971	NM_014028.4(OSTM1):c.*953C>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354972	NM_014028.4(OSTM1):c.*873A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 905178	NM_014028.4(OSTM1):c.*872T>C	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 905179	NM_014028.4(OSTM1):c.*835G>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354973	NM_014028.4(OSTM1):c.*778T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 906783	NM_014028.4(OSTM1):c.*751C>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354974	NM_014028.4(OSTM1):c.*432T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354975	NM_014028.4(OSTM1):c.*355A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354976	NM_014028.4(OSTM1):c.*331A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354977	NM_014028.4(OSTM1):c.*291A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 906784	NM_014028.4(OSTM1):c.*262C>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354978	NM_014028.4(OSTM1):c.*212A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GBenign
Select item 354979	NM_014028.4(OSTM1):c.*177A>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354980	NM_014028.4(OSTM1):c.*168T>G	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 354981	NM_014028.4(OSTM1):c.*147G>T	OSTM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive osteopetrosis 5	GUncertain significance
Select item 1003639	NM_014028.4(OSTM1):c.969T>G (p.Ser323Arg)	OSTM1 (S323R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1637607	NM_014028.4(OSTM1):c.966C>T (p.Ser322=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788101	NM_014028.4(OSTM1):c.960C>G (p.Leu320=)	OSTM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2092735	NM_014028.4(OSTM1):c.956G>A (p.Arg319His)	OSTM1 (R319H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871289	NM_014028.4(OSTM1):c.950-4C>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798246	NM_014028.4(OSTM1):c.950-6A>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551811	NM_014028.4(OSTM1):c.950-12T>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 354982	NM_014028.4(OSTM1):c.950-12T>C	OSTM1	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 2992544	NM_014028.4(OSTM1):c.950-16C>A	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843011	NM_014028.4(OSTM1):c.950-16C>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819257	NM_014028.4(OSTM1):c.950-20A>T	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289098	NM_014028.4(OSTM1):c.950-166G>C	OSTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2726418	NM_014028.4(OSTM1):c.949+15A>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605375	NM_014028.4(OSTM1):c.949+14A>G	OSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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